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Article

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.

Human molecular genetics - 1 Jul 2008

Martin Dianna C, Atmuri Vasantha, Hemming Richard J, Farley Judith, Mort John S, Byers Sharon, Hombach-Klonisch Sabine, Csoka Antonei B, Stern Robert, Triggs-Raine Barbara L

Abstract excerpt

Hyaluronidases are endoglycosidases that hydrolyze hyaluronan (HA), an abundant component of the extracellular matrix of vertebrate connective tissues. Six human hyaluronidase-related genes have been identified to date. Mutations in one of these genes cause a deficiency of hyaluronidase 1 (HYAL1) resulting in a lysosomal storage disorder, mucopolysaccharidosis (MPS) IX. We have characterized a mouse model of MPS...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18344557
DOI: 10.1093/hmg/ddn088

Genes

HYAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.PMID 18344557Read ↗

Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?Semantic proximity Read ↗

Mutations in <i>HYAL1</i> , a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IXSemantic proximity Read ↗

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Hyaluronidase 3 (HYAL3) knockout mice do not display evidence of hyaluronan accumulation.Semantic proximity Read ↗

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Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3.Semantic proximity Read ↗

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